Canonical Allele Identifier: CA379744824

Gene: CYP2R1

Linked Data

• MyVariant Identifiers: chr11:g.14900742G>T (hg19) ; chr11:g.14879196G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.14879196G>T , CM000673.2:g.14879196G>T	GRCh38
NC_000011.9:g.14900742G>T , CM000673.1:g.14900742G>T	GRCh37
NC_000011.8:g.14857318G>T	NCBI36
NG_007936.1:g.18010C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334636.10:c.1248C>A MANE Select	ENSP00000334592.5:p.Asp416Glu
ENST00000334636.9:c.1248C>A	ENSP00000334592.5:p.Asp416Glu
ENST00000525015.1:c.78C>A
ENST00000530609.5:c.*844C>A	ENSP00000466060.1:n.*844C>A
ENST00000532378.5:c.549C>A	ENSP00000435484.1:p.Asp183Glu
ENST00000532805.1:c.*356C>A	ENSP00000465097.1:n.*356C>A
ENST00000534686.5:c.*608C>A	ENSP00000432087.2:n.*608C>A
NM_024514.4:c.1248C>A	NP_078790.2:p.Asp416Glu
XM_005252788.1:c.1104C>A	XP_005252845.1:p.Asp368Glu
XM_005252789.2:c.1086C>A	XP_005252846.1:p.Asp362Glu
XM_005252791.3:c.903C>A	XP_005252848.1:p.Asp301Glu
XM_006718142.2:c.1203C>A	XP_006718205.1:p.Asp401Glu
XM_011519894.1:c.903C>A	XP_011518196.1:p.Asp301Glu
XM_011519895.1:c.903C>A	XP_011518197.1:p.Asp301Glu
XM_011519896.1:c.903C>A	XP_011518198.1:p.Asp301Glu
XM_011519897.1:c.903C>A	XP_011518199.1:p.Asp301Glu
XM_011519898.1:c.903C>A	XP_011518200.1:p.Asp301Glu
XR_242777.2:n.1065C>A
XM_005252788.2:c.1104C>A	XP_005252845.1:p.Asp368Glu
XM_005252789.3:c.1086C>A	XP_005252846.1:p.Asp362Glu
XM_011519895.2:c.903C>A	XP_011518197.1:p.Asp301Glu
XM_011519898.3:c.903C>A	XP_011518200.1:p.Asp301Glu
XM_017017190.2:c.1083C>A	XP_016872679.1:p.Asp361Glu
XM_017017191.2:c.903C>A	XP_016872680.1:p.Asp301Glu
XM_017017192.2:c.903C>A	XP_016872681.1:p.Asp301Glu
XM_017017193.2:c.903C>A	XP_016872682.1:p.Asp301Glu
XM_017017194.2:c.903C>A	XP_016872683.1:p.Asp301Glu
XM_024448345.1:c.1083C>A	XP_024304113.1:p.Asp361Glu
XM_024448346.1:c.903C>A	XP_024304114.1:p.Asp301Glu
XM_024448347.1:c.903C>A	XP_024304115.1:p.Asp301Glu
XM_024448348.1:c.903C>A	XP_024304116.1:p.Asp301Glu
XR_002957123.1:n.1028C>A
XR_002957124.1:n.1294C>A
XR_242777.3:n.1065C>A
NM_001377214.1:c.903C>A	NP_001364143.1:p.Asp301Glu
NM_001377215.1:c.903C>A	NP_001364144.1:p.Asp301Glu
NM_001377216.1:c.903C>A	NP_001364145.1:p.Asp301Glu
NM_001377217.1:c.1086C>A	NP_001364146.1:p.Asp362Glu
NM_001377227.1:c.903C>A	NP_001364156.1:p.Asp301Glu
NM_024514.5:c.1248C>A MANE Select	NP_078790.2:p.Asp416Glu
NM_001400558.1:c.903C>A	NP_001387487.1:p.Asp301Glu
NM_001400559.1:c.903C>A	NP_001387488.1:p.Asp301Glu
NM_001400560.1:c.903C>A	NP_001387489.1:p.Asp301Glu
NM_001400561.1:c.903C>A	NP_001387490.1:p.Asp301Glu
NM_001400562.1:c.549C>A	NP_001387491.1:p.Asp183Glu
NM_001400563.1:c.549C>A	NP_001387492.1:p.Asp183Glu
NM_001400564.1:c.549C>A	NP_001387493.1:p.Asp183Glu
NM_001400565.1:c.549C>A	NP_001387494.1:p.Asp183Glu
NM_001400566.1:c.270C>A	NP_001387495.1:p.Asp90Glu
NM_001400567.1:c.1104C>A	NP_001387496.1:p.Asp368Glu
NM_001400568.1:c.1203C>A	NP_001387497.1:p.Asp401Glu
NR_174512.1:n.1115C>A
NR_174513.1:n.964C>A
NR_174514.1:n.1339C>A
NR_174515.1:n.1748C>A
NR_174516.1:n.926C>A
NR_174517.1:n.462C>A
NR_174518.1:n.1559C>A
NR_174519.1:n.1306C>A
NR_174520.1:n.1097C>A
NR_174521.1:n.1597C>A
NR_174522.1:n.1095C>A
NR_174523.1:n.1506C>A